Variant report

Variant	esv2760195
Chromosome Location	chr11:87295119-87329156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:87308720-87308870	HEEpiC	esophagus:	n/a	n/a
2	CTCF	chr11:87322713-87322746	GM20000	blood:	n/a	n/a
3	CTCF	chr11:87308086-87308087	GM20000	blood:	n/a	n/a
4	CUX1	chr11:87328552-87328652	GM12878	blood:	n/a	n/a
5	E2F4	chr11:87325589-87325670	MCF10A-Er-Src	breast:	n/a	n/a
6	EBF1	chr11:87314968-87315182	GM12878	blood:	n/a	chr11:87315092-87315103
7	EBF1	chr11:87314972-87315220	GM12878	blood:	n/a	chr11:87315092-87315103
8	FOS	chr11:87294529-87295694	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:87294477-87295233	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:87313809-87313934	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr11:87315328-87315513	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr11:87294478-87295227	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:87313740-87313995	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:87313777-87313983	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:87295562-87295693	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:87294491-87295181	MCF10A-Er-Src	breast:	n/a	n/a
17	FOXA1	chr11:87308790-87308992	T-47D	breast:	n/a	n/a
18	GATA3	chr11:87325720-87326113	T-47D	breast:	n/a	n/a
19	GATA3	chr11:87296584-87296806	MCF-7	breast:	n/a	n/a
20	GATA3	chr11:87325759-87326079	MCF-7	breast:	n/a	n/a
21	GATA3	chr11:87314031-87314528	SK-N-SH	brain:	n/a	chr11:87314314-87314335
22	GATA3	chr11:87319623-87319812	SH-SY5Y	brain:	n/a	n/a
23	JUN	chr11:87323414-87323426	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAFF	chr11:87321626-87321824	HepG2	liver:	n/a	chr11:87321768-87321786
25	MAFF	chr11:87308860-87309060	HepG2	liver:	n/a	chr11:87308912-87308930
26	MAFK	chr11:87308782-87309008	HepG2	liver:	n/a	n/a
27	MAFK	chr11:87308836-87308998	HepG2	liver:	n/a	n/a
28	MAFK	chr11:87321638-87321930	HepG2	liver:	n/a	n/a
29	MAX	chr11:87305878-87306036	NB4	blood:	n/a	n/a
30	MAX	chr11:87323931-87324024	NB4	blood:	n/a	n/a
31	MYC	chr11:87294876-87295171	MCF10A-Er-Src	breast:	n/a	n/a
32	MYC	chr11:87315376-87315460	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr11:87299814-87299876	MCF-7	breast:	n/a	n/a
34	MYC	chr11:87294748-87295193	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr11:87318040-87318079	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:87300171-87300172	A549	lung:	n/a	n/a
37	POLR2A	chr11:87312613-87312713	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr11:87322514-87322551	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:87298007-87298060	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:87325867-87326001	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:87308701-87309074	H1-neurons	neurons:	n/a	n/a
42	POLR2A	chr11:87300069-87300169	A549	lung:	n/a	n/a
43	POLR2A	chr11:87299853-87299886	A549	lung:	n/a	n/a
44	POLR2A	chr11:87313979-87314088	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr11:87298875-87298971	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr11:87324244-87324408	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr11:87299895-87299913	A549	lung:	n/a	n/a
48	SPI1	chr11:87323908-87324142	HL-60	blood:	n/a	n/a
49	STAT3	chr11:87321642-87321652	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr11:87294597-87295288	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNU6-1135P	TF binding region

Extended variants
information (count: 1068 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1068 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17150328	chr11:87295119-87295120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541307807	chr11:87295131-87295132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12574077	chr11:87295141-87295142	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs573237027	chr11:87295168-87295169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550277150	chr11:87295178-87295179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4269949	chr11:87295191-87295192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532577962	chr11:87295256-87295257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7929162	chr11:87295319-87295320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs529146991	chr11:87295321-87295322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7928908	chr11:87295359-87295360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73526965	chr11:87295373-87295374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183524105	chr11:87295374-87295375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537224437	chr11:87295394-87295395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556266056	chr11:87295407-87295408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187250909	chr11:87295422-87295423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112585645	chr11:87295423-87295424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140126156	chr11:87295470-87295471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572036836	chr11:87295480-87295481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141548343	chr11:87295494-87295495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561146388	chr11:87295504-87295505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574733997	chr11:87295538-87295539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543241579	chr11:87295551-87295552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563455789	chr11:87295602-87295603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191816399	chr11:87295636-87295637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552613507	chr11:87295701-87295702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533086405	chr11:87295720-87295721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139391755	chr11:87295721-87295722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150066887	chr11:87295735-87295736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551055719	chr11:87295744-87295745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183893749	chr11:87295777-87295778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372732634	chr11:87295795-87295796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111232896	chr11:87295828-87295829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550899765	chr11:87295835-87295836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191329027	chr11:87295845-87295846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570742454	chr11:87295855-87295856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386755890	chr11:87295874-87295875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4622295	chr11:87295876-87295877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534599733	chr11:87295888-87295889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184272169	chr11:87295904-87295905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190481645	chr11:87295906-87295907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182259628	chr11:87295910-87295911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200301826	chr11:87295922-87295923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563359075	chr11:87295923-87295924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185311631	chr11:87295942-87295943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373512359	chr11:87295961-87295962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546013000	chr11:87295996-87295997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559396464	chr11:87295997-87295998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370094777	chr11:87296012-87296013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528510589	chr11:87296048-87296049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548188584	chr11:87296058-87296059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87294400-87295400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:87294400-87295600	Enhancers	HMEC	breast
3	chr11:87294400-87295800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:87294800-87295600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:87295000-87295600	Enhancers	NHEK	skin
6	chr11:87295800-87296200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:87296200-87296400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:87296400-87313600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:87300000-87300200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:87306200-87308000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:87306600-87307600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:87307600-87308600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:87308600-87308800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:87308600-87309600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:87308800-87309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:87309400-87309600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:87311600-87312400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:87311800-87312200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:87313600-87314200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:87314200-87314600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:87314600-87315600	Enhancers	Aorta	Aorta
22	chr11:87314600-87315600	Enhancers	Psoas Muscle	Psoas
23	chr11:87314600-87315800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:87314600-87315800	Enhancers	HMEC	breast
25	chr11:87314800-87315600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:87314800-87315600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:87314800-87315600	Enhancers	NHEK	skin
28	chr11:87315000-87315400	Enhancers	Gastric	stomach
29	chr11:87315000-87315400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:87315000-87315600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:87315000-87315600	Enhancers	Pancreas	Pancrea
32	chr11:87315000-87315800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:87327600-87327800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:87327800-87344600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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